Kabzinska D - Search Results

1

An axonal form of Charcot-Marie-Tooth disease with a novel missense mutation in the myelin protein zero gene.

Kochanski A, Kabzinska D, Nowakowski A, Drac H, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. J Peripher Nerv Syst. 2004 Mar;9(1):1-2. doi: 10.1111/j.1085-9489.2004.09101.x. J Peripher Nerv Syst. 2004. PMID: 14871447 No abstract available.

2

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK. Kabzińska D, et al. J Peripher Nerv Syst. 2006 Sep;11(3):225-31. doi: 10.1111/j.1529-8027.2006.00092.x. J Peripher Nerv Syst. 2006. PMID: 16930284

3

Somatic mosaicism in Charcot-Marie-Tooth type X disease.

Kochanski A, Nowakowski A, Kawulak M, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. Neurology. 2004 Jan 27;62(2):336-7. doi: 10.1212/01.wnl.0000103441.52563.02. Neurology. 2004. PMID: 14745088 No abstract available.

4

A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.

Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. Neuromuscul Disord. 2004 Mar;14(3):229-32. doi: 10.1016/j.nmd.2003.12.001. Neuromuscul Disord. 2004. PMID: 15036333

5

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

Kochanski A, Drac H, Kabzińska D, Ryniewicz B, Rowińska-Marcińska K, Nowakowski A, Hausmanowa-Petrusewicz I. Kochanski A, et al. Among authors: kabzinska d. Neurology. 2004 Jun 8;62(11):2122-3. doi: 10.1212/01.wnl.0000127606.93772.3a. Neurology. 2004. PMID: 15184631

6

Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.

Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I. Kabzińska D, et al. Neuropediatrics. 2005 Jun;36(3):206-9. doi: 10.1055/s-2005-865606. Neuropediatrics. 2005. PMID: 15944907

7

Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.

Kabzinska D, Drac H, Sherman DL, Kostera-Pruszczyk A, Brophy PJ, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Neurology. 2006 Mar 14;66(5):745-7. doi: 10.1212/01.wnl.0000201269.46071.35. Neurology. 2006. PMID: 16534116

8

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

Kabzinska D, Drac H, Rowinska-Marcinska K, Fidzianska A, Kochanski A, Hausmanowa-Petrusewicz I. Kabzinska D, et al. Acta Myol. 2006 Jun;25(1):34-7. Acta Myol. 2006. PMID: 17039978

9

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance.

Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Kabzinska D, et al. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. doi: 10.5414/npp27001. Clin Neuropathol. 2008. PMID: 18257469 Review.

10

Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

Kabzińska D, Saifi GM, Drac H, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I, Kochański A, Lupski JR. Kabzińska D, et al. Acta Myol. 2007 Oct;26(2):108-11. Acta Myol. 2007. PMID: 18421898 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

60 results

Search Page

Filters